Annual Report 2006

Lysosomal Diseases New Zealand

Chairperson’s report to LDNZ Annual Meeting – 6 September 2006

This report covers the financial year July 2005 to June 2006 but also includes comments up to date to September 2006.

Highlights

There were three significant achievements in the past 14 months for LDNZ:

Work has started on the development of a Medicines Strategy for New Zealand and the terms of reference for this make specific reference to orphan diseases. LDNZ keeps a close eye on the development of this strategy through the NZ Organisation for Rare Disorders and the Access to Medicines Coalition.

Funding of pre-implantation genetic diagnosis was approved by the Minister of Health and the procedure is now available to our families who wish to avoid a repeat of the disease in future pregnancies.

Winning some grants that have enabled us to pay an honorarium to Jenny Noble for her considerable work as Secretary/Treasurer.

Trust meetings

The trustees have not held a formal meeting (in person or by phone conference) since out last Annual Meeting in November 2005. Some decisions on expenditure have been made by exchanges of emails to get approval of recommendations to the Board. I don’t think there is any particular problem with the lack of formal meetings over this time as during 2005 we did quite a lot of work planning our approach to the challenges we face. During 2006 (in particular) we have been able to get on with quite a bit of work implementing the plans because we have also had success with fundraising.

Major activities

We have continued to keep in touch with a number of health sector policy issues and make submissions on things relevant to us (e.g. the Palliative Care review) or contribute our issues to submissions made by NZORD.

We are actively involved in the Access to Medicines Coalition and the NZ Carers Alliance and contribute to their work towards a Medicines Strategy and a Carer Strategy.

We have upgraded our website and now have it hosted and supported free through NZORD.

Our success with fundraising has enabled us to make good progress in providing family support services. This includes direct help to individual families as well as organising regional meetings so families can meet to learn from each other.

Advocating for individual families that need assistance, usually with disability support, education and vocational support or income support, is happening more frequently and usually with successful outcomes.

We have increased the frequency and quality of our newsletters and during 2006 there will be three published. Feedback from families on these is very positive.

We’ve also had good success raising funds to assist travel to conferences and during 2006 we will be contributing funds to assist 32 people to attend conferences, including the international MPS conference in Venice, the Tay-Sachs meeting in the US, a Battens conference in Sweden, a Cystinosis conference in Australia, and the Australian MPS meeting.

Now that we are better resourced we are able to start developing much better publicity material for LDNZ and quite a bit of work has gone into this in recent months.

We have maintained our strong links with international lysosomal organisations, and in particular a strong contribution to ISMRD, the International Advocate for Glycoprotein Storage Diseases.

Family contacts

We continue to receive a trickle of new contacts with families each year and our network is now up to 88 patients and relatives. There clearly are more out there that we have heard about but not heard from. Our continuing concern is that they may not know about LDNZ and the supports and information we can provide to them. We hope the brochures we are preparing for clinics will improve the chances of newly diagnosed families being given specific information about LDNZ.

Challenges for the future

There is good reason for hope that the Medicine Strategy will set a better overall framework for decisions about subsidy of ERT, but there is still likely to be a need for strong advocacy to ensure the right decisions are made.

We will need to keep up the pressure on clinical services policy to ensure the resources for genetic and metabolic services keep pace with the needs, and that other services respond more appropriately e.g. in palliative care, transition to adult services, etc.

Disability support services will clearly need a lot of attention on an ongoing basis as there are no signs that they are capable of responding anywhere near to adequately to the complex needs of many of our families.

Thank you

A special thank you to LDNZ trustees for your support over this time. Extra special thanks are due to Jenny Noble who does a huge amount of work for LDNZ. It is great that we are able to give some financial recognition for what she does, even though what we give her does not reflect the value of the enormous efforts she makes on our behalf. Without her sterling efforts there would not be nearly as much progress to report.

Performance report to June 2018

Rare Disease Epidemiology – 2nd Edition

In mid-2017, John was invited to write a preface for a book called Rare Diseases Epidemiology, which concentrates on the work done for LDNZ and ISMRD and talks about what patient advocates can achieve.

Here’s the link to the PDF or you can pay for and download the book here.